Key result
In young Marfan syndrome patients, absence of family history was associated with higher rates of aortic sinus dilation (87% vs 32%, p=0.009) and aortic surgery (37% vs 0%, p=0.002).
Why the study?
While the prevalence and natural history of cardiovascular manifestations are well known in adults with Marfan syndrome, little is known about children and young adults, or the impact of family history and bicuspid aortic valve on disease severity.
Does the absence of family history or presence of bicuspid aortic valve predict a more severe aortic phenotype in children and young adults with Marfan syndrome?
Cohort (n=30)
Does the absence of family history or presence of bicuspid aortic valve predict a more severe aortic phenotype in children and young adults with Marfan syndrome?
Absolute Event Rate: 87% vs 32%
p-value: p=0.009
In children and young adults with Marfan syndrome, the absence of a family history and the presence of a bicuspid aortic valve are associated with a more severe aortic phenotype and higher rates of aortic surgery.
BACKGROUND: Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity. METHODS: A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical-instrumental-genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve. RESULTS: Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004). CONCLUSIONS: In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.
No takes yet. Share an insight, caveat, or question.
Monda et al. (2020) conducted a cohort in Marfan syndrome (n=30). Absence of family history vs. Presence of family history was evaluated on Aortic sinus dilation (p=0.009). In young Marfan syndrome patients, absence of family history was associated with higher rates of aortic sinus dilation (87% vs 32%, p=0.009) and aortic surgery (37% vs 0%, p=0.002).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: